Partial Deletion of the Carboxyl-Terminal Signal Sequence of the Cellular Prion Protein Alters Protein Expression via Endoplasmic Reticulum-Associated Degradation.

Cellular prion protein (PrP) is a glycoprotein tethered to the plasma membrane via a GPI-anchor, and it plays a crucial role in prion diseases by undergoing conformational change to PrP. To generate a knock-in (KI) mouse model expressing bank vole PrP (BVPrP), a KI targeting construct was designed. However, a Prnp gene sequence that encodes PrP lacking seven C-terminal amino acid residues of the GPI-anchoring signal sequence (GPI-SS) was unintentionally introduced into the construct.

Recurrent Hemorrhagic Stroke and Microcephaly in a Newborn with Aicardi-Goutières Syndrome Caused by a Homozygous Intronic Variant.

Aicardi-Goutières syndrome (AGS) is a progressive multisystem disorder marked by early-onset encephalopathy. This report investigates the genetic basis of AGS in a newborn from consanguineous parents with microcephaly, recurrent hemorrhagic strokes, brain calcifications, leukodystrophy, epilepsy, anemia, thrombocytopenia, and left ventricular hypertrophy. Next-generation sequencing-based targeted gene panel testing for epilepsy variant in the gene.

A vaccine targeting lung resident-memory CD4 T cell phenotype protects against Mycobacterium tuberculosis in mice.

Lung-resident memory T (T) cells respond rapidly and effectively to respiratory pathogen invasion, suppressing pathogen proliferation. Previously, we identified a defined TLR3 agonist called Nexavant (NVT) and developed a vaccine platform that utilizes it to induce lung T. In this study, we aimed to determine whether the protective effect of T cells is observed in tuberculosis (TB), a chronic bacterial respiratory disease.

Relationship between cerebrospinal fluid cytokines/chemokines and clinical impact of myelin oligodendrocyte glycoprotein antibody-associated disorders in children.

Background: Myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease (MOGAD) has been increasingly reported in children at the first presentation of an acquired central nervous system (CNS) demyelinating disorder and can have a relapsing course. This study aimed to evaluate cerebrospinal fluid (CSF) cytokine/chemokine profiles in children with acute-phase inflammatory demyelinating disorders according to MOG-IgG positivity and/or recurrent relapses.

Methods: A total of 24 cytokines/chemokines were measured using multiplex immunoassay in the CSF of 85 children, who were divided into serum MOG-IgG positive (MOG-P, n = 28) [acute disseminated encephalomyelitis (n = 19), optic neuritis (n = 8), neuromyelitis optica spectrum disorder (n = 1)] group, MOG-negative (MOGN, n = 27) demyelinating disorder group, and control (n = 30) group.

Neuroimaging of patients with headache in the pediatric emergency department: A single center retrospective study.

Background: Headache is a common neurologic complaint in children and adolescents, and the secondary causes of headache in these patients should be identified and excluded. We investigated the sensitivity and specificity of red flags in children with headache admitted to the emergency room and the associations of red flags with abnormal findings in neuroimaging, especially in serious pathologies.

Methods: A retrospective review was conducted on individuals under <18 years old with headache who visited the emergency department at Pusan National University Hospital, the Republic of Korea, from January 2017 to December 2022.

Assessing quality of care among maternity waiting home users and non-users in a rural Rwandan hospital.

Maternal near-miss (MNM) and maternal death (MD) reviews may improve the quality of obstetric care. We assessed the incidence of severe maternal outcomes (SMO) and process indicators among maternity waiting home (MWH) users and non-users in a rural Rwandan hospital. We conducted a retrospective cohort study among women who were eligible for admission to the MWH (users and non-users) at Ruli Hospital in Rwanda and had delivered between January 2015 to December 2019.

Design, synthesis, biological evaluation study of spirocyclic POM analogues as novel MmpL3 anti-tubercular agent.

We present the development of a phenyl oxazole methyl (POM) core structure with spirocyclic derivatives as part of our efforts to discover innovative anti-tuberculosis agents. Derivatives of spirocyclic POM were synthesized and evaluated for their inhibitory effects on M.tuberculosis (M.

The Influence of Family Adversities on Longitudinal Changes in Physical Inactivity Among Korean Adolescents During the COVID-19 Pandemic.

Objectives: Lack of physical activity has a critical effect on the physical and mental health of adolescents. This study examined the influence of family adversities on the longitudinal changes in physical inactivity among adolescents during the coronavirus disease 2019 (COVID-19) pandemic.

Methods: The study used multi-wave data from the Korean Children and Youth Panel Survey, including 2590 Korean adolescents aged 12-14 years.

IL-10 regulatory B cells mitigate atopic dermatitis by suppressing eosinophil activation.

Atopic dermatitis (AD) presents significant therapeutic challenges due to its poorly understood etiology. Eosinophilia, a hallmark of allergic inflammation, is implicated in AD pathogenesis. Interleukin-10 (IL-10)-producing regulatory B (Breg) cells exhibit potent anti-inflammatory effects.

The Role of Robotics in Meeting Institutional Goals: A Unified Strategy to Facilitate Program Excellence.

Purpose: The rapid expansion of robotic surgical equipment necessitates a review of the needs and challenges faced by hospitals introducing robots for the first time to compete with experienced institutions. The aim of this study was to analyze the impact of robotic surgery on our hospital compared to open and laparoscopic surgery, examine internal transformations, and assess regional, domestic, and international implications.

Methods: A retrospective review was conducted of electronic medical records (EMRs) from 2019 to 2022 at Inha University Hospital, including patients who underwent common robotic procedures and equivalent open and laparoscopic operations.

HIV seroconversion among female sex workers: retrospective cohort study from a large-scale HIV prevention and sexual and reproductive health program in Tanzania.

Introduction: In 2016, UNAIDS set ambitious targets to reduce global HIV infections by 75% by 2020 and 90% by 2030, based on the 2.1 million new infections reported in 2010. However, by 2022, new HIV infections had only decreased by 38%, from 2.

Clinical feature, GALC variant spectrum, and genotype-phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years.

Krabbe disease (KD) is an autosomal recessive neurodegenerative disorder caused by deficiency of the galactocerebrosidase (GALC) due to variants in the GALC gene. Here, we provide the first and the largest comprehensive analysis of clinical and genetic characteristics, and genotype-phenotype correlations of KD in Korean in comparison with other ethnic groups. From June 2010 to June 2023, 10 patients were diagnosed with KD through sequencing of GALC.

IL-27-induced PD-L1Sca-1 innate lymphoid cells suppress contact hypersensitivity in an IL-10-dependent manner.

Innate lymphoid cells (ILCs) play an important role in maintaining tissue homeostasis and various inflammatory responses. ILCs are typically classified into three subsets, as is the case for T-cells. Recent studies have reported that IL-10-producing type 2 ILCs (ILC2s) have an immunoregulatory function dependent on IL-10.

Clinical use of whole exome sequencing in children with developmental delay/intellectual disability.

Background: Identifying the underlying etiology of developmental delay/intellectual disability (DD/ID) is challenging but important. The genetic diagnosis of unexplained DD/ID helps in the treatment and prognosis of the disability in patients. In this study, we reported our experience of using whole exome sequencing (WES) of children with unexplained DD/ID.

Women's experience of childbirth care in health facilities: a qualitative assessment of respectful maternity care in Afghanistan.

Background: Respectful maternity care (RMC) remains a key challenge in Afghanistan, despite progress on improving maternal and newborn health during 2001-2021. A qualitative study was conducted in 2018 to provide evidence on the situation of RMC in health facilities in Afghanistan. The results are useful to inform strategies to provide RMC in Afghanistan in spite of the humanitarian crisis due to Taliban's takeover in 2021.

Coffin-Siris Syndrome: Case Series of Three Patients and a Novel ARID2 Variant.

Coffin-Siris syndrome (CSS) is a rare congenital disorder characterized by coarse facial features, intellectual disability or developmental delay, and aplasia or hypoplasia of the tips of the fifth finger and/or toes. Mutations in genes affecting the switch/sucrose non-fermenting ATP-dependent chromatin remodeling complex are reported to cause CSS. Here, we describe three CSS patients.

Preventive Effect of Extract on DSS-Induced Colitis by Elevating Intestinal Barrier Function and Improving Pathogenic Inflammation.

Inflammatory bowel disease (IBD), including ulcerative colitis and Crohn's disease, is a complex gastrointestinal disorder with a multifactorial etiology, including environmental triggers, autoimmune mechanisms, and genetic predisposition. Despite advancements in therapeutic strategies for IBD, its associated mortality rate continues to rise, which is often attributed to unforeseen side effects of conventional treatments. In this context, we explored the potential of extract (ECE), derived from an edible marine alga known for its anti-inflammatory and antioxidant properties, in mitigating IBD.

Dendropanoxide Attenuates High Glucose-induced Oxidative Damage in NRK-52E Cells via AKT/mTOR Signaling Pathway.

Hyperglycemia is a potent risk factor for the development and progression of diabetes-induced nephropathy. Dendropanoxide (DPx) is a natural compound isolated from (Araliaceae) that exerts various biological effects. However, the role of DPx in hyperglycemia-induced renal tubular cell injury remains unclear.

Pontocerebellar Hypoplasia 7 with Novel Compound Heterozygous Variants of in a Boy with Micropenis, Developmental Delay, and Ataxia: The First Korean Case Report.

Pontocerebellar hypoplasia (PCH) is a rare neurodegenerative disorder characterized by hypoplasia of the pons and cerebellum and global developmental delay. Among several PCH types, PCH7 is a characteristic type that manifests with not only brain lesions but also sexual developmental disorders. The causative gene, , encodes a protein involved in small ribonucleic acid maturation and processing.

Adult height in girls with central precocious puberty without gonadotropin-releasing hormone agonist treatment: a retrospective case-control study.

Background: The primary aim of this study was to investigate the final adult height (FAH) of girls diagnosed with central precocious puberty (CPP) who were untreated.

Methods: We retrospectively analyzed the medical records of 36 girls diagnosed with CPP between 8 and 9 years of age who did not receive treatment, and 206 girls diagnosed with CPP within the same age range who received gonadotropin-releasing hormone (GnRH) agonist treatment. Midparental height (MPH), predicted adult height (PAH) obtained using height and bone age (BA) at the time of diagnosis (PAH for BA), and PAH obtained using the Bayley-Pinneau method (PAH by BP) were calculated.

Stereochemical assignment of clerodane-type diterpenes from the fruits of Casearia grewiifolia and their ability to inhibit PCSK9 expression.

More than 20 natural products have been reported to modulate PCSK9-mediated cholesterol regulation, and small-molecule-derived proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors continue to be developed and identified. Here, twelve undescribed clerodane-type diterpenes (1-9 and 12-14) and two known compounds were isolated from the chloroform-soluble extract of the dried fruits of Casearia grewiifolia Vent. using a PCSK9 mRNA expression monitoring assay.